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Fusion gene ID: 7869 |
FusionGeneSummary for COL1A1_CPB1 |
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Fusion gene information | Fusion gene name: COL1A1_CPB1 | Fusion gene ID: 7869 | Hgene | Tgene | Gene symbol | COL1A1 | CPB1 | Gene ID | 1277 | 1360 |
Gene name | collagen type I alpha 1 chain | carboxypeptidase B1 | |
Synonyms | EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | CPB|PASP|PCPB | |
Cytomap | 17q21.33 | 3q24 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | carboxypeptidase Bcarboxypeptidase B1 (tissue)pancreas-specific proteinpancreatic carboxypeptidase Bprocarboxypeptidase Bprotaminasetissue carboxypeptidase B | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | P02452 | P15086 | |
Ensembl transtripts involved in fusion gene | ENST00000225964, | ENST00000491148, ENST00000282957, ENST00000498639, | |
Fusion gene scores | * DoF score | 28 X 47 X 4=5264 | 21 X 24 X 3=1512 |
# samples | 52 | 19 | |
** MAII score | log2(52/5264*10)=-3.33957596070679 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/1512*10)=-2.99238681589013 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COL1A1 [Title/Abstract] AND CPB1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
Hgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
Hgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
Hgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
Hgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-LL-A5YM-01A | COL1A1 | chr17 | 48261893 | - | CPB1 | chr3 | 148577674 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000225964 | ENST00000491148 | COL1A1 | chr17 | 48261893 | - | CPB1 | chr3 | 148577674 | + |
intron-3CDS | ENST00000225964 | ENST00000282957 | COL1A1 | chr17 | 48261893 | - | CPB1 | chr3 | 148577674 | + |
intron-3UTR | ENST00000225964 | ENST00000498639 | COL1A1 | chr17 | 48261893 | - | CPB1 | chr3 | 148577674 | + |
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FusionProtFeatures for COL1A1_CPB1 |
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Hgene | Tgene |
COL1A1 | CPB1 |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for COL1A1_CPB1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for COL1A1_CPB1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
COL1A1 | IGFBP3, TXN, ITGA2, ITGB1, NID1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1 | CPB1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for COL1A1_CPB1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(I) chain | biotech | approved|investigational |
Hgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Collagen alpha-1(I) chain | biotech | approved|investigational |
Tgene | CPB1 | P15086 | DB04272 | Citric Acid | Carboxypeptidase B | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for COL1A1_CPB1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 39 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 18 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 14 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0023931 | Lobstein's Disease | 12 | ORPHANET;UNIPROT |
Hgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
Hgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
Hgene | COL1A1 | C4225429 | Ehlers-Danlos syndrome classic type | 2 | UNIPROT |
Hgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Hgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
Hgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Hgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Hgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
Hgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
Hgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
Hgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
Hgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Hgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Hgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human |
Hgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |